K. Murayama

发表

Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240kb deletion in Xq28 without male hypogenitalism

I. Nonaka, Y. Hayashi, I. Nishino, 2005, Neuromuscular Disorders.

Malignant Hyperthermia in Japan: Mutation Screening of the Entire Ryanodine Receptor Type 1 Gene Coding Region by Direct Sequencing

Y. Hayashi, I. Nishino, N. Minami, 2006, Anesthesiology.

Host range mutant of human immunodeficiency virus type 1: modification of cell tropism by a single point mutation at the neutralization epitope in the env gene

M. Akutsu, N. Shimizu, H. Hoshino, 1991, Journal of virology.

Subcellular localization of fukutin and fukutin-related protein in muscle cells.

Y. Hayashi, I. Nishino, S. Noguchi, 2004, Journal of biochemistry.

Reduction of UDP-N-acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase Activity and Sialylation in Distal Myopathy with Rimmed Vacuoles*

I. Nonaka, Y. Hayashi, I. Nishino, 2004, Journal of Biological Chemistry.

Ullrich disease: Collagen VI deficiency: EM suggests a new basis for muscular weakness

I. Nonaka, I. Nishino, N. Minami, 2002, Neurology.

Clinicopathological features of genetically confirmed Danon disease

S. Dimauro, I. Nonaka, I. Nishino, 2002, Neurology.

Gene expression analyses in X-linked myotubular myopathy

I. Nishino, R. Kurokawa, S. Noguchi, 2005, Neurology.

Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy

I. Nishino, F. Hentati, K. Murayama, 2005, Neuromuscular Disorders.

A new diagnostic test for VLCAD deficiency using immunohistochemistry

I. Nonaka, I. Nishino, Kunihiro Yoshida, 2004, Neurology.

Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression.

N. Shimizu, K. Ihara, S. Asakawa, 2001, Genomics.

Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy

I. Nonaka, N. Minami, M. Nakagawa, 2001, Neuromuscular Disorders.

Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand

Y. Hayashi, I. Nishino, T. Liewluck, 2006, Muscle & nerve.

0261 Central core disease is due to RyR1 mutations in more than 90% of patients

I. Nonaka, Y. Hayashi, I. Nishino, 2005, Journal of the Neurological Sciences.

Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status

Y. Goto, S. Takeda, N. Minami, 2017, Stem cells international.

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

I. Nonaka, Y. Hayashi, I. Nishino, 2007, Neurology.

Ullrich disease due to deficiency of collagen VI in the sarcolemma

Y Suzuki, I. Nonaka, Y. Hayashi, 2004, Neurology.

Fetal pulmonary hypoplasia with hydrothorax.

K. Murayama, C. Mitsuishi, Y. Matsumoto, 1987, American Journal of Obstetrics and Gynecology.

Two novel CAV3 gene mutations in Japanese families

I. Nonaka, Y. Hayashi, I. Nishino, 2004, Neuromuscular Disorders.

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

I. Nonaka, Y. Hayashi, I. Nishino, 2001, Human molecular genetics.

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

I. Nonaka, I. Nishino, K. Chida, 2002, Neurology.

[Molecular pathomechanism of distal myopathy with rimmed vacuoles].

N. Kasahata, I. Nonaka, Y. Hayashi, 2005, Rinsho shinkeigaku = Clinical neurology.